title: Biochemical investigation of a child with molybdenum cofactor deficiency.
abstract: A girl aged eight months, who presented with developmental delay and dislocated optic lenses, was diagnosed as having combined sulfite oxidase and xanthine dehydrogenase deficiencies consistent with molybdenum cofactor deficiency. The diagnosis was confirmed by demonstrating the absence in urine of urothione, a molybdenum cofactor metabolite. Prenatal diagnosis excluded the disease in the mother's second pregnancy. A summary of an in vitro study of molybdenum cofactor synthesis in the patient is given.
authors.affiliation: Biochemical Diseases Laboratory, B.C.'s Children's Hospital, Vancouver, Canada.
authors.forename: F J
authors.initials: FJ
authors.lastname: Bamforth
authors.forename: J L
authors.initials: JL
authors.lastname: Johnson
authors.forename: A G
authors.initials: AG
authors.lastname: Davidson
authors.forename: L T
authors.initials: LT
authors.lastname: Wong
authors.forename: G
authors.initials: G
authors.lastname: Lockitch
authors.forename: D A
authors.initials: DA
authors.lastname: Applegarth
mesh_terms: D003067:Coenzymes / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008667:Metalloproteins / Q000378:metabolism*; D015394:Molecular Structure; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011621:Pteridines / Q000378:metabolism* / Q000652:urine; D014968:Xanthine Dehydrogenase / Q000172:deficiency
chemical_list: D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D014968:Xanthine Dehydrogenase; C022261:molybdopterin; C036390:urothion